EZH2 p.Asp737fs
c.2208_2209dup · VCV3775629
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Weaver syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (20 of 20) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EZH2
- Protein
- p.Asp737fs
- Coding
- c.2208_2209dup
- MANE Select
- NM_004456
- Type
- Duplication
- Location
- chr7:148807692 (GRCh38)
- Gene constraint
- LOEUF 0.272 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.58 · 41 PDB
- Residue 737
- an α-helix; a UniProt-annotated variant site (in wvs)
Similar variants
- EZH2 p.Asp730Ter Pathogenic/Likely pathogenic ★★ same condition
- EZH2 c.1672+2dup Uncertain significance ★★ same condition
- EZH2 c.118-4dup Benign/Likely benign ★★ same condition
- EZH2 c.247-15dup Benign/Likely benign ★★ same condition
- EZH2 c.364-14dup Benign/Likely benign ★★ same condition
- EZH2 c.2196-10_2197dup Likely pathogenic ★ same condition
- EZH2 p.Lys740dup Likely pathogenic ★ same condition
- EZH2 c.2111-3_2115dup Uncertain significance ★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ezh2-p-asp737fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown